CEP78 (centrosomal protein 78)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84131
Gene name Gene Name - the full gene name approved by the HGNC.
Centrosomal protein 78
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CEP78
Synonyms (NCBI Gene) Gene synonyms aliases
C9orf81, CRDHL, IP63
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a centrosomal protein that is both required for the regulation of centrosome-related events during the cell cycle, and required for ciliogenesis. The encoded protein has an N-terminal leucine-rich repeat (LRR) domain with six consecutive
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
SNP ID Visualize variation Clinical significance Consequence
rs745750156 G>A Pathogenic Intron variant
rs1014151821 A>G Likely-pathogenic Intron variant, splice acceptor variant
rs1057517691 G>T Pathogenic Splice donor variant
rs1057517692 C>- Pathogenic Coding sequence variant, frameshift variant
rs1057517693 G>A Pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(43)
miRTarBase ID miRNA Experiments Reference
MIRT026788 hsa-miR-192-5p Microarray 19074876
MIRT042634 hsa-miR-423-3p CLASH 23622248
MIRT643674 hsa-miR-3938 HITS-CLIP 23824327
MIRT643673 hsa-miR-3124-3p HITS-CLIP 23824327
MIRT643672 hsa-miR-3180-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(24)
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IBA
GO:0005813 Component Centrosome IDA 28242748, 34259627
GO:0005813 Component Centrosome IDA 21399614, 27246242
GO:0005813 Component Centrosome IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
617110 25740 ENSG00000148019
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q5JTW2
Protein name Centrosomal protein of 78 kDa (Cep78)
Protein function Centriole wall protein that localizes to mature centrioles and regulates centriole and cilia biogenesis (PubMed:27246242, PubMed:27588451, PubMed:28242748, PubMed:34259627). Involved in centrosome duplication: required for efficient PLK4 centros
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13516 LRR_6 146 → 169 Leucine Rich repeat Repeat
PF13516 LRR_6 254 → 277 Leucine Rich repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Widely expressed (PubMed:27588451, PubMed:27588452). Expressed in different retinal cell types with higher expression in cone compared to rod cells (at protein level) (PubMed:27588452). {ECO:0000269|PubMed:27588451, ECO:0000269|PubMed:
Sequence 
MIDSVKLRRDSAADFFSHYEYLCALQNSVPLPAVRACLREGVLDFNADRLRGVDWAPLLS
TLKINKDLPLVSIKSFFQPWLGDTGSDMNKFCRSRVPAIRYKDVTFQLCKALKGCLSISS
VLKNLELNGLILRERDLTILAKGLNKSASLVHLSLANCPIGDGGLEIICQGIKSSITLKT
VNFTGCNLTWQGADHMAKILKYQTMRRHEETWAESLRYRRPDLDCMAGLRRITLNCNTLI
GDLGACAFADSLSEDLWLRALDLQQCGLTNEGAKALLEALETNTTLVVLDIRKNPLIDHS
MMKAVIKKVLQNGRSAKSEYQWITSPSVKEPSKTAKQKRRTIILGSGHKGKATIRIGLAT
KKPVSSGRKHSLGKEYYAPAPLPPGVSGFLPWRTAERAKRHRGFPLIKTRDICNQLQQPG
FPVTVTVESPSSSEVEEVDDSSESVHEVPEKTSIEQEALQEKLEECLKQLKEERVIRLKV
DKRVSELEHENAQLRNINFSLSEALHAQSLTNMILDDEGVLGSIENSFQKFHAFLDLLKD
AGLGQLATMAGIDQSDFQLLGHPQMTSTVSNPPKEEKKALEDEKPEPKQNALGQMQNIQF
QKITGDARIPLPLDSFPVPVSTPEGLGTSSNNLGVPATEQRQESFEGFIARMCSPSPDAT
SGTGSQRKEEELSRNSRSSSEKKTKTESH
Sequence length 689
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
AURKA Activation by TPX2
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cone-Rod Dystrophy And Hearing Loss Cone-rod dystrophy and hearing loss 1 rs1196886096, rs1057517691, rs759754640, rs1057517692, rs778035330, rs1057517693, rs1057517694, rs1057517695, rs745750156, rs1057518753 N/A
retinal dystrophy Retinal dystrophy rs1057517692, rs1826338661, rs776271026, rs1363491382, rs1042726781, rs1363359148, rs1826145876 N/A
cone-rod dystrophy Cone-rod dystrophy rs1827340429, rs1196886096 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Androgenetic Alopecia Androgenetic alopecia N/A N/A GWAS
Optic Atrophy optic atrophy N/A N/A ClinVar
Usher Syndrome Usher syndrome type 3 N/A N/A GenCC
Show/Hide Text Mining Associations (15)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Squamous Cell Stimulate 33119552
Ciliopathies Associate 27627988
Cone Rod Dystrophies Associate 27588452, 31999394, 34130719, 34259627
Deafness Cataract Retinitis Pigmentosa And Sperm Abnormalities Associate 31999394
Hearing Loss Associate 31999394, 34021019, 34259627
Hearing Loss Sensorineural Associate 27588452, 34223797
Infertility Associate 31999394
Infertility Male Associate 31999394
Neoplasms Associate 33119552
Non Muscle Invasive Bladder Neoplasms Associate 33119552